Familial digital arthropathy-brachydactyly
Familial digital arthropathy-brachydactyly
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DOI：
10.1002/ajmg.10269
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发表时间：
2002-03-15
期刊：
影响因子：
--
通讯作者：
Savarirayan, R
中科院分区：
文献类型：
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作者：
Amor, DJ;Tudball, C;Savarirayan, R
我们报告了一个大家族患有以前未描述的显性遗传疾病，包括手脚关节病和中远端指骨进行性缩短。我们将这种病症命名为家族性指关节病-短指畸形（FDAB）。 FDAB 在最初的十年内发病，关节病呈进展性，导致成年后出现畸形和疼痛。骨骼的其余部分不受影响。根据不同年龄患者的放射学表现，推测 FDAB 可能是由主要影响指骨、掌骨和跖骨的软骨下病变引起的，其次是关节病和短指。 (C) 2002 Wiley-Liss, Inc.
We report a large family with a previously undescribed, dominantly inherited condition comprising arthropathy of the hands and feet and progressive shortening of the middle and distal phalanges. We have designated the condition familial digital arthropathy-brachydactyly (FDAB). Onset of FDAB is in the first decade and the arthropathy is progressive, resulting in deformity and pain in adult life. The remainder of the skeleton is not affected. It is hypothesized from the radiological appearance of patients at different ages that FDAB might result from subehondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. (C) 2002 Wiley-Liss, Inc.